Items tagged “metabolic inherited”
4 results found
Case
Krabbe disease
Published
10 Jul 2009
53% complete
CT
Article
X-linked adrenoleukodystrophy
X-linked adrenoleukodystrophy is an inherited metabolic peroxisomal disorder and one of the more common leukodystrophies in both children and adults. It is characterized by lack of oxidation of very long chain fatty acids (VLCFAs) that results in severe inflammatory demyelination typically of th...
Case
Adrenoleukodystrophy
Published
09 Jan 2015
92% complete
MRI
Case
Maple syrup urine disease
Published
28 Feb 2020
92% complete
MRI